GTR Home > Conditions/Phenotypes > Neurofibromatosis, type 2

Disease characteristics

Excerpted from the GeneReview: Neurofibromatosis 2
Neurofibromatosis 2 (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Affected individuals may also develop schwannomas of other cranial and peripheral nerves, meningiomas, ependymomas, and, very rarely, astrocytomas. Posterior subcapsular lens opacities that rarely progress to a visually significant cataract are the most common ocular findings and may be the first sign of NF2. Mononeuropathy that occurs in childhood is an increasingly recognized finding; it frequently presents as a persistent facial palsy, a squint (third nerve palsy), or hand/foot drop.

Associated genes

Clinical features

  • Tinnitus
  • Cafe-au-lait spot
  • Hearing impairment
  • Gait disturbance
  • Opacification of the corneal stroma
  • Juvenile posterior subcapsular lenticular opacities
  • Juvenile cortical cataract
  • Retinal hamartoma
  • Unilateral vestibular Schwannoma
  • Incoordination
  • Cataract
  • Headache
  • Increased intracranial pressure
  • Sensorineural hearing impairment
  • Visual impairment
  • Ataxia
  • Migraine
  • Vertigo
  • Meningioma
  • Ependymoma
  • Abnormality of the retinal vasculature
  • Neoplasm of the skin
  • Bilateral vestibular Schwannoma
  • Astrocytoma
  • Peripheral Schwannoma
  • Occasional neurofibromas
  • Glioma
  • Peripheral neuropathy
  • Facial palsy
  • Epiretinal membrane
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